ClinVar Miner

List of variants reported as likely benign for Segawa syndrome, autosomal recessive

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Total variants: 12
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HGVS dbSNP
NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_199292.3(TH):c.102+14G>A rs191356744
NM_199292.3(TH):c.1128G>T (p.Ala376=) rs11826260
NM_199292.3(TH):c.1293+9C>T rs11564717
NM_199292.3(TH):c.1371G>A (p.Thr457=) rs36097848
NM_199292.3(TH):c.1494C>T (p.Asp498=) rs3842724
NM_199292.3(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.3(TH):c.279G>A (p.Ser93=) rs34510659
NM_199292.3(TH):c.303T>C (p.Ala101=) rs7950050
NM_199292.3(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716

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